Familial mitral valve prolapse

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Familial mitral valve prolapse

ORPHA:741Morphological anomaly

What it is

A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets >2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure.

Key facts

Inheritance
Autosomal dominant
Classified as
Morphological anomaly

Gene

DCHS1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

I34.1filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 3687MONDO 0008004OMIM 157700OMIM 607829OMIM 610840UMLS C0340364

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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